{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,3]],"date-time":"2026-02-03T21:30:07Z","timestamp":1770154207886,"version":"3.49.0"},"reference-count":16,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2026,1,11]],"date-time":"2026-01-11T00:00:00Z","timestamp":1768089600000},"content-version":"vor","delay-in-days":10,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,1,1]],"date-time":"2026-01-01T00:00:00Z","timestamp":1767225600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["JIMD Reports"],"published-print":{"date-parts":[[2026,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>Pyridox(am)ine 5\u2032 Phosphate Oxidase deficiency (PNPO) presents with refractory epilepsy responsive to treatment with pyridoxal 5\u2032 phosphate (PLP) or pyridoxine. A 15\u2010year\u2010old boy with PNPO deficiency and cirrhosis underwent orthotopic liver transplantation for hepatocellular carcinoma without extra\u2010hepatic disease. Pre\u2010transplant, the boy was cognitively normal with well controlled epilepsy on PLP 50\u2009mg\/kg\/day. Continuous EEG monitoring was used pre\u2010operatively and post\u2010operatively to identify encephalopathy resulting from PLP deficiency. B6 vitamers (pyridoxine [PN], pyridoxamine [PM], pyridoxal [PL] and phosphorylated forms [PNP, PMP, PLP]) were assayed at times of encephalopathy (symptoms and\/or EEG) and for pharmacokinetics. Doses of PLP were titrated to prevent encephalopathy and limit side effects. The intraoperative\/immediate postoperative periods were managed with intravenous PLP at a dose which could be reduced to 7.8\u2009mg\/kg\/day before encephalopathy recurred. Post\u2010transplant, transition to oral PLP (100\u2009mg\/kg\/day) led to fulminant hepatic impairment, which improved when IV dosing resumed. Subsequent transition to full oral PLP dosing took 9\u2009months with a final dose of 24\u2009mg\/kg\/day oral PLP. PLP showed dose dependent hepatotoxicity with associated rises in alpha\u2010fetoprotein levels. Gradual PLP dose changes and frequent oral dosing minimised encephalopathy episodes and hepato\u2010toxicity. Six years post\u2010transplant, liver biopsy showed moderate portal fibrosis (Ishak fibrosis stage 2\/6, LAFSc score 3\/9). Encephalopathy\/seizures were associated with lower plasma PL concentrations (40 times above physiological levels); but high plasma PLP concentrations did not prevent encephalopathy. Despite liver transplantation, requirements for supraphysiologic doses of PLP continued, suggesting impaired neuronal PLP salvage is the major factor determining PLP requirements in PNPO deficiency.<\/jats:p>","DOI":"10.1002\/jmd2.70067","type":"journal-article","created":{"date-parts":[[2026,1,11]],"date-time":"2026-01-11T08:40:24Z","timestamp":1768120824000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Liver Transplantation in\n                    <scp>PNPO<\/scp>\n                    Deficiency: Management Challenges and Biological Lessons"],"prefix":"10.1002","volume":"67","author":[{"given":"Richard","family":"Webster","sequence":"first","affiliation":[{"name":"T.Y. Nelson Department of Neurology and Neurosurgery Children's Hospital at Westmead  Sydney Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bindu Parayil","family":"Sankaran","sequence":"additional","affiliation":[{"name":"T.Y. Nelson Department of Neurology and Neurosurgery Children's Hospital at Westmead  Sydney Australia"},{"name":"Department of Paediatrics Liverpool Hospital  Liverpool Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sushil","family":"Bandodkar","sequence":"additional","affiliation":[{"name":"Department of Clinical Biochemistry Children's Hospital at Westmead  Sydney Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3614-7085","authenticated-orcid":false,"given":"Michael","family":"Stormon","sequence":"additional","affiliation":[{"name":"Department of Gastroenterology Children's Hospital at Westmead  Sydney Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gordon","family":"Thomas","sequence":"additional","affiliation":[{"name":"Department of Surgery Children's Hospital at Westmead  Sydney 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